About Rare and genetic movement disorders
We conduct clinical and translational research on specific groups of rare movement disorders, with a focus on ataxias, hereditary spastic paraplegia, dystonia, and rare forms of parkinsonism. Central themes are: identification of new (genetic) causes; trial readiness; understanding disease mechanisms; and testing symptomatic and disease-modifying interventions.
Aims
For a prioritized set of rare movements disorders, we aim to:
- Secure trial-readiness, through natural history and biomarker discovery studies that provide sensitive and relevant outcome measures and inform the design of clinical trials
- Identify new causes of rare movement disorders and implement these in diagnostic trajectories
- Generate new insights in molecular and system-level mechanisms, which serve as new disease markers or as leads for therapy
- Design and test symptomatic and disease-modifying therapies.
Achievements
- The identification of new movement disorder genes and elaborate phenotype-genotype descriptions
- Showcasing the diagnostic utility of advanced genetic methods in rare movement disorders
- Building a model system platform for CACNA1A that can be exploited for diagnostic and therapeutic studies
- Completion of clinical trials that have investigated non-invasive cerebellar stimulation in SCA3 and training effects in HSP
- Discovery of imaging biomarkers in SCA1 that can serve as surrogate endpoints in clinical trials
- Solid contributions to international ataxia studies, such as ESMI, PREPARE, SPATAX, and PROSPAX
Research programs
Programs that are connected to this research group.
Our members
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Colette Reniers PhD candidate Neurologie
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Maaike Hoogland PhD candidate Genetica
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Teije van Prooije neuroloog in opleiding
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Kris Leeuwenberg arts in opleiding tot neuroloog
